Links from Gene
Items: 1 to 20 of 8234
1.
rs1491588967 has merged into rs58776865 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:51845520
(GRCh38)
20:50462059
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51845507:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.25/10
(GENOME_DK)
AA=0.3051/1528
(1000Genomes)
- HGVS:
NC_000020.11:g.51845520_51845527del, NC_000020.11:g.51845521_51845527del, NC_000020.11:g.51845522_51845527del, NC_000020.11:g.51845523_51845527del, NC_000020.11:g.51845524_51845527del, NC_000020.11:g.51845525_51845527del, NC_000020.11:g.51845526_51845527del, NC_000020.11:g.51845527del, NC_000020.11:g.51845527dup, NC_000020.11:g.51845526_51845527dup, NC_000020.11:g.51845525_51845527dup, NC_000020.11:g.51845524_51845527dup, NC_000020.11:g.51845523_51845527dup, NC_000020.11:g.51845522_51845527dup, NC_000020.10:g.50462059_50462066del, NC_000020.10:g.50462060_50462066del, NC_000020.10:g.50462061_50462066del, NC_000020.10:g.50462062_50462066del, NC_000020.10:g.50462063_50462066del, NC_000020.10:g.50462064_50462066del, NC_000020.10:g.50462065_50462066del, NC_000020.10:g.50462066del, NC_000020.10:g.50462066dup, NC_000020.10:g.50462065_50462066dup, NC_000020.10:g.50462064_50462066dup, NC_000020.10:g.50462063_50462066dup, NC_000020.10:g.50462062_50462066dup, NC_000020.10:g.50462061_50462066dup
3.
rs1491580147 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAA
[Show Flanks]
- Chromosome:
- 20:51862710
(GRCh38)
20:50479250
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51862710:AA:AACAA
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AACAA=0.00008/1
(
ALFA)
AAC=0.0001/5
(GnomAD)
- HGVS:
4.
rs1491577330 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 20:51845507
(GRCh38)
20:50462046
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51845506:CA:
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01037/123
(
ALFA)
-=0.00287/81
(TOMMO)
- HGVS:
5.
rs1491549542 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 20:51844740
(GRCh38)
20:50461279
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51844739:CT:
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
- HGVS:
6.
rs1491438931 has merged into rs57883182 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:51851235
(GRCh38)
20:50467774
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.51851235_51851247del, NC_000020.11:g.51851236_51851247del, NC_000020.11:g.51851243_51851247del, NC_000020.11:g.51851244_51851247del, NC_000020.11:g.51851245_51851247del, NC_000020.11:g.51851246_51851247del, NC_000020.11:g.51851247del, NC_000020.11:g.51851247dup, NC_000020.11:g.51851246_51851247dup, NC_000020.11:g.51851245_51851247dup, NC_000020.11:g.51851244_51851247dup, NC_000020.11:g.51851242_51851247dup, NC_000020.10:g.50467774_50467786del, NC_000020.10:g.50467775_50467786del, NC_000020.10:g.50467782_50467786del, NC_000020.10:g.50467783_50467786del, NC_000020.10:g.50467784_50467786del, NC_000020.10:g.50467785_50467786del, NC_000020.10:g.50467786del, NC_000020.10:g.50467786dup, NC_000020.10:g.50467785_50467786dup, NC_000020.10:g.50467784_50467786dup, NC_000020.10:g.50467783_50467786dup, NC_000020.10:g.50467781_50467786dup
7.
rs1491436771 has merged into rs35042360 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 20:51836201
(GRCh38)
20:50452740
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51836190:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:51836190:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:51836190:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:51836190:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:51836190:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:51836190:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:51836190:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:51836190:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.000193/51
(TOPMED)
-=0.3/12
(GENOME_DK)
- HGVS:
NC_000020.11:g.51836201_51836205del, NC_000020.11:g.51836202_51836205del, NC_000020.11:g.51836203_51836205del, NC_000020.11:g.51836204_51836205del, NC_000020.11:g.51836205del, NC_000020.11:g.51836205dup, NC_000020.11:g.51836204_51836205dup, NC_000020.11:g.51836203_51836205dup, NC_000020.10:g.50452740_50452744del, NC_000020.10:g.50452741_50452744del, NC_000020.10:g.50452742_50452744del, NC_000020.10:g.50452743_50452744del, NC_000020.10:g.50452744del, NC_000020.10:g.50452744dup, NC_000020.10:g.50452743_50452744dup, NC_000020.10:g.50452742_50452744dup
8.
rs1491435208 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 20:51834507
(GRCh38)
20:50451046
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51834506:AG:
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000016/2
(GnomAD)
- HGVS:
9.
rs1491429752 has merged into rs60491859 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:51862717
(GRCh38)
20:50479256
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51862709:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
NC_000020.11:g.51862717_51862729del, NC_000020.11:g.51862719_51862729del, NC_000020.11:g.51862720_51862729del, NC_000020.11:g.51862721_51862729del, NC_000020.11:g.51862722_51862729del, NC_000020.11:g.51862723_51862729del, NC_000020.11:g.51862724_51862729del, NC_000020.11:g.51862726_51862729del, NC_000020.11:g.51862727_51862729del, NC_000020.11:g.51862728_51862729del, NC_000020.11:g.51862729del, NC_000020.11:g.51862729dup, NC_000020.11:g.51862728_51862729dup, NC_000020.11:g.51862727_51862729dup, NC_000020.11:g.51862726_51862729dup, NC_000020.11:g.51862725_51862729dup, NC_000020.11:g.51862724_51862729dup, NC_000020.11:g.51862723_51862729dup, NC_000020.11:g.51862722_51862729dup, NC_000020.11:g.51862720_51862729dup, NC_000020.11:g.51862719_51862729dup, NC_000020.11:g.51862718_51862729dup, NC_000020.11:g.51862717_51862729dup, NC_000020.11:g.51862716_51862729dup, NC_000020.11:g.51862715_51862729dup, NC_000020.11:g.51862714_51862729dup, NC_000020.11:g.51862713_51862729dup, NC_000020.11:g.51862712_51862729dup, NC_000020.11:g.51862711_51862729dup, NC_000020.11:g.51862710_51862729dup, NC_000020.10:g.50479256_50479268del, NC_000020.10:g.50479258_50479268del, NC_000020.10:g.50479259_50479268del, NC_000020.10:g.50479260_50479268del, NC_000020.10:g.50479261_50479268del, NC_000020.10:g.50479262_50479268del, NC_000020.10:g.50479263_50479268del, NC_000020.10:g.50479265_50479268del, NC_000020.10:g.50479266_50479268del, NC_000020.10:g.50479267_50479268del, NC_000020.10:g.50479268del, NC_000020.10:g.50479268dup, NC_000020.10:g.50479267_50479268dup, NC_000020.10:g.50479266_50479268dup, NC_000020.10:g.50479265_50479268dup, NC_000020.10:g.50479264_50479268dup, NC_000020.10:g.50479263_50479268dup, NC_000020.10:g.50479262_50479268dup, NC_000020.10:g.50479261_50479268dup, NC_000020.10:g.50479259_50479268dup, NC_000020.10:g.50479258_50479268dup, NC_000020.10:g.50479257_50479268dup, NC_000020.10:g.50479256_50479268dup, NC_000020.10:g.50479255_50479268dup, NC_000020.10:g.50479254_50479268dup, NC_000020.10:g.50479253_50479268dup, NC_000020.10:g.50479252_50479268dup, NC_000020.10:g.50479251_50479268dup, NC_000020.10:g.50479250_50479268dup, NC_000020.10:g.50479249_50479268dup
10.
rs1491374519 has merged into rs5841862 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:51847335
(GRCh38)
20:50463874
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51847325:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.51847335_51847347del, NC_000020.11:g.51847336_51847347del, NC_000020.11:g.51847337_51847347del, NC_000020.11:g.51847339_51847347del, NC_000020.11:g.51847340_51847347del, NC_000020.11:g.51847341_51847347del, NC_000020.11:g.51847342_51847347del, NC_000020.11:g.51847344_51847347del, NC_000020.11:g.51847345_51847347del, NC_000020.11:g.51847346_51847347del, NC_000020.11:g.51847347del, NC_000020.11:g.51847347dup, NC_000020.11:g.51847346_51847347dup, NC_000020.11:g.51847345_51847347dup, NC_000020.11:g.51847344_51847347dup, NC_000020.11:g.51847343_51847347dup, NC_000020.11:g.51847342_51847347dup, NC_000020.11:g.51847341_51847347dup, NC_000020.11:g.51847340_51847347dup, NC_000020.11:g.51847339_51847347dup, NC_000020.11:g.51847336_51847347dup, NC_000020.11:g.51847334_51847347dup, NC_000020.11:g.51847347_51847348insAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.50463874_50463886del, NC_000020.10:g.50463875_50463886del, NC_000020.10:g.50463876_50463886del, NC_000020.10:g.50463878_50463886del, NC_000020.10:g.50463879_50463886del, NC_000020.10:g.50463880_50463886del, NC_000020.10:g.50463881_50463886del, NC_000020.10:g.50463883_50463886del, NC_000020.10:g.50463884_50463886del, NC_000020.10:g.50463885_50463886del, NC_000020.10:g.50463886del, NC_000020.10:g.50463886dup, NC_000020.10:g.50463885_50463886dup, NC_000020.10:g.50463884_50463886dup, NC_000020.10:g.50463883_50463886dup, NC_000020.10:g.50463882_50463886dup, NC_000020.10:g.50463881_50463886dup, NC_000020.10:g.50463880_50463886dup, NC_000020.10:g.50463879_50463886dup, NC_000020.10:g.50463878_50463886dup, NC_000020.10:g.50463875_50463886dup, NC_000020.10:g.50463873_50463886dup, NC_000020.10:g.50463886_50463887insAAAAAAAAAAAAAAAAAAAAAAA
13.
rs1491220608 has merged into rs869171573 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGGGGGGG
[Show Flanks]
- Chromosome:
- 20:51838399
(GRCh38)
20:50454938
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51838395:GGGGGGG:GGG,NC_000020.11:51838395:GGGGGGG:GGGG,NC_000020.11:51838395:GGGGGGG:GGGGG,NC_000020.11:51838395:GGGGGGG:GGGGGG,NC_000020.11:51838395:GGGGGGG:GGGGGGGG,NC_000020.11:51838395:GGGGGGG:GGGGGGGGG,NC_000020.11:51838395:GGGGGGG:GGGGGGGGGG,NC_000020.11:51838395:GGGGGGG:GGGGGGGGGGG,NC_000020.11:51838395:GGGGGGG:GGGGGGGGGGGGGGGGG
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0./0
(
ALFA)
G=0.00048/2
(Estonian)
- HGVS:
NC_000020.11:g.51838399_51838402del, NC_000020.11:g.51838400_51838402del, NC_000020.11:g.51838401_51838402del, NC_000020.11:g.51838402del, NC_000020.11:g.51838402dup, NC_000020.11:g.51838401_51838402dup, NC_000020.11:g.51838400_51838402dup, NC_000020.11:g.51838399_51838402dup, NC_000020.11:g.51838402_51838403insGGGGGGGGGG, NC_000020.10:g.50454938_50454941del, NC_000020.10:g.50454939_50454941del, NC_000020.10:g.50454940_50454941del, NC_000020.10:g.50454941del, NC_000020.10:g.50454941dup, NC_000020.10:g.50454940_50454941dup, NC_000020.10:g.50454939_50454941dup, NC_000020.10:g.50454938_50454941dup, NC_000020.10:g.50454941_50454942insGGGGGGGGGG
14.
rs1491208276 has merged into rs57883182 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:51851235
(GRCh38)
20:50467774
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:51851225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.51851235_51851247del, NC_000020.11:g.51851236_51851247del, NC_000020.11:g.51851243_51851247del, NC_000020.11:g.51851244_51851247del, NC_000020.11:g.51851245_51851247del, NC_000020.11:g.51851246_51851247del, NC_000020.11:g.51851247del, NC_000020.11:g.51851247dup, NC_000020.11:g.51851246_51851247dup, NC_000020.11:g.51851245_51851247dup, NC_000020.11:g.51851244_51851247dup, NC_000020.11:g.51851242_51851247dup, NC_000020.10:g.50467774_50467786del, NC_000020.10:g.50467775_50467786del, NC_000020.10:g.50467782_50467786del, NC_000020.10:g.50467783_50467786del, NC_000020.10:g.50467784_50467786del, NC_000020.10:g.50467785_50467786del, NC_000020.10:g.50467786del, NC_000020.10:g.50467786dup, NC_000020.10:g.50467785_50467786dup, NC_000020.10:g.50467784_50467786dup, NC_000020.10:g.50467783_50467786dup, NC_000020.10:g.50467781_50467786dup
18.
rs1491041056 has merged into rs71192565 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:51854577
(GRCh38)
20:50471116
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:51854566:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000020.11:g.51854577_51854586del, NC_000020.11:g.51854580_51854586del, NC_000020.11:g.51854581_51854586del, NC_000020.11:g.51854582_51854586del, NC_000020.11:g.51854583_51854586del, NC_000020.11:g.51854584_51854586del, NC_000020.11:g.51854585_51854586del, NC_000020.11:g.51854586del, NC_000020.11:g.51854586dup, NC_000020.11:g.51854585_51854586dup, NC_000020.11:g.51854584_51854586dup, NC_000020.11:g.51854583_51854586dup, NC_000020.11:g.51854580_51854586dup, NC_000020.11:g.51854579_51854586dup, NC_000020.11:g.51854574_51854586dup, NC_000020.11:g.51854573_51854586dup, NC_000020.10:g.50471116_50471125del, NC_000020.10:g.50471119_50471125del, NC_000020.10:g.50471120_50471125del, NC_000020.10:g.50471121_50471125del, NC_000020.10:g.50471122_50471125del, NC_000020.10:g.50471123_50471125del, NC_000020.10:g.50471124_50471125del, NC_000020.10:g.50471125del, NC_000020.10:g.50471125dup, NC_000020.10:g.50471124_50471125dup, NC_000020.10:g.50471123_50471125dup, NC_000020.10:g.50471122_50471125dup, NC_000020.10:g.50471119_50471125dup, NC_000020.10:g.50471118_50471125dup, NC_000020.10:g.50471113_50471125dup, NC_000020.10:g.50471112_50471125dup
19.
rs1491025595 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 20:51836505
(GRCh38)
20:50453044
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51836503:TCT:T
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000204/24
(GnomAD)
- HGVS:
20.
rs1490945893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:51835813
(GRCh38)
20:50452352
(GRCh37)
- Canonical SPDI:
- NC_000020.11:51835812:C:G
- Gene:
- LINC01429 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: